Cargando…

Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life

INTRODUCTION: Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause of chronic kidney disease (CKD) and the need for kidney replacement therapy (KRT) in children. Although more than 60 genes are known to cause CAKUT if mutated, genetic etiology is detected, on averag...

Descripción completa

Detalles Bibliográficos
Autores principales:	Werfel, Lina, Martens, Helge, Hennies, Imke, Gjerstad, Ann Christin, Fröde, Kerstin, Altarescu, Gheona, Banerjee, Sushmita, Valenzuela Palafoll, Irene, Geffers, Robert, Kirschstein, Martin, Christians, Anne, Bjerre, Anna, Haffner, Dieter, Weber, Ruthild G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Translational Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10658255/ https://www.ncbi.nlm.nih.gov/pubmed/38025229 http://dx.doi.org/10.1016/j.ekir.2023.08.008

Ejemplares similares

Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2
por: Christians, Anne, et al.
Publicado: (2022)

Rare heterozygous GDF6 variants in patients with renal anomalies
por: Martens, Helge, et al.
Publicado: (2020)

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
por: Saisawat, Pawaree, et al.
Publicado: (2013)

Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience
por: Riedhammer, Korbinian M., et al.
Publicado: (2023)

Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)
por: Rodriguez, Maria M.
Publicado: (2014)

Management of Hypertension in CAKUT: Protective Factor for CKD
por: Gabriele, Marina M., et al.
Publicado: (2019)

The Evaluation of Genetic Diagnosis on High-Risk Fetal CAKUT
por: Liu, Wanlu, et al.
Publicado: (2022)

Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
por: Riedhammer, Korbinian M., et al.
Publicado: (2023)

Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)
por: Kohl, Stefan, et al.
Publicado: (2021)

The term CAKUT has outlived its usefulness: the case for the prosecution
por: Woolf, Adrian S.
Publicado: (2022)

The term CAKUT has outlived its usefulness: the case for the defense
por: Knoers, Nine V. A. M.
Publicado: (2022)

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
por: Moore, David F, et al.
Publicado: (2002)

Identification and functional interpretation of miRNAs affected by rare CNVs in CAKUT
por: Mitrovic, Kristina, et al.
Publicado: (2022)

CAKUT: A Pediatric and Evolutionary Perspective on the Leading Cause of CKD in Childhood
por: Chevalier, Robert L.
Publicado: (2023)

Editorial: CAKUT in Children and Adolescents: Towards Better Understanding of Impact and Risk Reduction
por: Jankauskiene, Augustina
Publicado: (2022)

Overlap of vitamin A and vitamin D target genes with CAKUT-related processes
por: Ozisik, Ozan, et al.
Publicado: (2022)

Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing
por: Nowak, Albina, et al.
Publicado: (2021)

Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism
por: Tolkin, Lior, et al.
Publicado: (2023)

PTHrP-related Hypercalcaemia in Infancy and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
por: Kodous, Nardeen, et al.
Publicado: (2015)

Achievement of Therapeutic Goals with Low-Dose Imiglucerase in Gaucher Disease: A Single-Center Experience
por: Tukan, Irina, et al.
Publicado: (2013)

Anesthetic management for oocyte retrieval: An exploratory analysis comparing outcome in in vitro fertilization cycles with and without pre-implantation genetic diagnosis
por: Ioscovich, Alexander, et al.
Publicado: (2013)

Risk Assessment of Severe Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): A Birth Cohort
por: Katsoufis, Chryso P., et al.
Publicado: (2019)

Genetic spectrum of CAKUT and risk factors for kidney failure: a paediatric multicentre cohort study
por: Liu, Jia-Lu, et al.
Publicado: (2022)

Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis
por: Klämbt, Verena, et al.
Publicado: (2020)

Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia
por: Petzold, Friederike, et al.
Publicado: (2022)

Arterial Wall Properties and Womersley Flow in Fabry Disease
por: Moore, David F, et al.
Publicado: (2002)

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney
por: Westland, Rik, et al.
Publicado: (2015)

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
por: Cirulli, Elizabeth T., et al.
Publicado: (2020)

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
por: Karczewski, Konrad J., et al.
Publicado: (2022)

Aberrations in FGFR1, FGFR2, and RIP5 Expression in Human Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
por: Kelam, Nela, et al.
Publicado: (2022)

Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development
por: Veljačić Visković, Daniela, et al.
Publicado: (2023)

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients
por: Yanovsky-Dagan, Shira, et al.
Publicado: (2021)

PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database
por: Negrisolo, Susanna, et al.
Publicado: (2023)

Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models
por: Andrews, T. D., et al.
Publicado: (2012)

Twenty thousand saints /
por: Dafydd, Fflur
Publicado: (2008)

The Princess and the First Thousand
Publicado: (1890)

Eighty-Thousand Adolescents
Publicado: (1951)

Fifty Thousand Pounds
Publicado: (1891)

The Princess and the Second Thousand
Publicado: (1891)

Kidney biopsy diagnosis in childhood in the Norwegian Kidney Biopsy Registry and the long-term risk of kidney replacement therapy: a 25-year follow-up
por: Gjerstad, Ann Christin, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_kfd7hjcrff345oggevm2q59h6e